ILDR1

Chr 3q13.33

immunoglobulin like domain containing receptor 1

Aliases:: MGC50831
MANE:: ENST00000344209.10

OMIM: 609739 ↗NCBI: 286676 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ILDR1 · Q86SU0

v62025-08-01

Predicted Aligned Error matrix for ILDR1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

59.0/ 100

Low

546 residues

Confidence breakdown

Very high(≥ 90)22%
Confident(70–90)12%
Low(50–70)14%
Very low(< 50)53%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hearing loss, autosomal recessive
0.70
deafness
0.60
hearing loss disorder
0.46
nonsyndromic genetic hearing loss
0.45
presbycusis
0.42
Non-syndromic genetic deafness
0.39
hypothyroidism
0.35
Rare genetic deafness
0.35
Hearing impairment
0.32
physical activity
0.28

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Immunoglobulin-like domain-containing receptor 1

Maintains epithelial barrier function by recruiting MARVELD2/tricellulin to tricellular tight junctions (tTJs) (PubMed:23239027). Crucial for normal hearing by maintaining the structural and functional integrity of tTJs, which are critical for the survival of auditory neurosensory HCs. Mediates fatty acids and lipoproteins-stimulated CCK/cholecystokinin secretion in the small intestine. In the inner ear, may regulate alternative pre-mRNA splicing via binding to TRA2A, TRA2B and SRSF1 (By similarity)